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Category: genetics – Page 4

Personalized gene therapy helps teen with rare form of severe epilepsy walk independently

SCN2A-related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations in the sodium voltage-gated channel alpha subunit (SCN2A) gene, which controls the flow of sodium ions into neurons. These mutations promote abnormal brain excitability, resulting in uncontrolled seizures along with developmental delays, autism, movement problems and gastrointestinal issues. Most of these mutations are de novo (not inherited from a parent) and arise spontaneously.

Traditional antiseizure medications are often ineffective and do not address the underlying genetic cause of SCN2A-related DEE.

Now, an international team of researchers led by the University of California San Diego and Rady Children’s Institute for Genomic Medicine has treated two children with the condition using gene therapy tailored to each child’s specific SCN2A mutation.

AI‑designed gene‑editing enzymes expand the CRISPR toolbox

Scientists have made many advances using traditional CRISPR technology, especially in medicine, but they are now seeking ways to create genuinely new gene-editing enzymes with properties that have not already evolved naturally. A new study, published in Science, describes a new AI-designed synthetic TnpB enzyme, called SynTnpBs, that has outperformed the natural reference enzyme.

Creating new gene editors CRISPR tools use a programmable guide RNA to direct an enzyme to a specific target in the genome to edit (cut, insert or correct) DNA. The TnpB enzyme is a compact ancestor of certain CRISPR enzymes, called CRISPR-Cas12 enzymes. Researchers think its small size could make it useful in situations where delivery space is limited, like some kinds of gene editing in plants. However, these enzymes can be difficult to redesign.

While AI has been useful for automating complex genome editing and predicting DNA repair outcomes, most AI methods used for generating gene-editing enzymes have produced versions that are still very similar to natural proteins. When researchers have attempted to create new editors with novel, useful properties, they have found it challenging to change the protein without breaking the molecular contacts needed for DNA editing.

Withinpatient gene transfer between transiently and chronically infecting bacteria causes extreme antibiotic resistance during lung infections Microbiology

Antibiotic resistance gene acquisition by Pseudomonas aeruginosa and Achromobacter from transiently infecting bacteria drives rapid and extreme resistance to tobramycin during chronic lung infection within patients.

This amino acid may help the body fight tumors and viral infections

The amino acid arginine helps keep the human body humming, most notably by synthesizing proteins that carry out a range of cellular processes. It’s produced by our bodies and found in common high-protein foods. Low levels of arginine are associated with a number of diseases, including colon cancer.

Sohail Tavazoie, head of Rockefeller University’s Elizabeth and Vincent Meyer Laboratory of Systems Cancer Biology, has been investigating that connection for years. In 2023, Tavazoie’s team found that starving colon cancer cells of arginine increases the number of mutations they accumulate. Now they’ve discovered that an arginine-deficient diet also affects the immune system by stalling the production of the MHC-I protein, which alerts the immune system to dangers such as a mutating cell or an invading virus.

Intriguingly, they also found that a moderate dose of arginine—about as much as is found in a couple of over-the-counter tablets—could potentially restore expression of the genes responsible for MHC-I production. They published the results in the journal Cell.

How the heart’s ‘little brain’ helps it function and protects it against stress

For years, scientists have known that the heart has its own network of nerves, the intrinsic cardiac nervous system (ICNS), sometimes called its “little brain.” Exactly how it functions has remained something of a mystery, but a new paper published in the journal Cell sheds light on how these heart nerves work to keep the heart beating steadily.

The heart’s nerve cells fine-tune signals coming from the brain to control heart function, including heart rate. But because they are so few, doctors have struggled to determine exactly what they do. To solve this, researchers from Yale University School of Medicine genetically engineered adult mice so their heart nerves would glow, making them much easier to study.

After locating the nerves, the team analyzed which genes were active in them. They discovered that the nerves fell into two categories, which they called Npy neurons and Ddah1 neurons.

Unzipping the Code of Life: Scientists Pinpoint Where DNA First Opens

Researchers mapped where DNA first opens and how a helicase gate may release one strand as genome copying begins.

Before a cell can divide, it must open its tightly wound DNA and begin copying the entire genome. Researchers at the MRC Laboratory of Medical Sciences (LMS) and collaborating institutions have now traced this process to one of its earliest moments, revealing where DNA first separates inside living cells and identifying a molecular gate that helps launch replication.

Published in Nature Communications, the findings provide a closer view of how cells begin duplicating their genetic material. Because copying errors can damage the genome, the start of DNA replication must be controlled with exceptional precision.

Gene editing tool reduces Huntington’s toxic protein fragments and symptoms in mice

A gene-editing tool designed to precisely rewrite the gene that causes Huntington’s disease reduced toxic protein fragments and symptoms associated with the disease in mice, researchers at the University of Illinois Urbana-Champaign report.

While other gene-based treatments have focused on turning the gene off, the Illinois team took a different approach. The researchers designed a base-editing tool to alter a specific point in the huntingtin gene so the cell’s machinery would skip over a small section prone to generating toxic fragments while preserving enough huntingtin protein to support its normal functions.

Led by Pablo Perez-Pinera and Thomas Gaj, professors of bioengineering at the U. of I., the researchers published their findings in the journal Nature Biomedical Engineering.

Genetic deletions may help explain differences in schizophrenia severity

Schizophrenia affects approximately 23 million people worldwide, with onset usually occurring during a person’s late adolescence or 20s. Impairments associated with schizophrenia include hallucinations, delusions, and disorganized thinking and behavior.

Now, researchers at the University of Washington are investigating how genetic changes affect the severity of schizophrenia symptoms. A new study, published in the American Journal of Psychiatry, supports the idea that deletions in genes that regulate early brain and neuron development are associated with more severe features of schizophrenia spectrum disorders, particularly lower cognitive abilities.

Bloodstream-delivered cell therapy slows muscle decline in young people with Duchenne muscular dystrophy, trial finds

A cell therapy called deramiocel could slow muscle weakening in boys and young men with advanced Duchenne muscular dystrophy (DMD) and may also slow heart damage in those who already have heart muscle disease, a Phase III clinical trial published in The Lancet has found.

It is the first Phase III trial of a cell therapy made from donor cells and administered through the bloodstream to treat a genetic disease, and the first such trial in boys and young men whose DMD is already advanced. The therapy is grown from heart cells that were donated for transplant but could not be used.

There is no cure for DMD, a serious genetic condition that causes the muscles, including the heart, to gradually weaken and waste away. It almost exclusively affects boys and young men because the gene involved sits on the X chromosome. As the disease progresses, most patients lose the ability to walk and come to depend on their arms and hands for everyday tasks and independence.

Hesperidin and Hesperetin: EpigeneticStemness Crosstalk, Antitumor Mechanisms, Preclinical Data and Translation Barriers

Hesperidin is a natural flavonoid derived from citrus plants, which can be hydrolyzed into hesperetin in vivo. Both compounds have anti-inflammatory, antioxidant and antitumor activities. At present, there is a lack of reviews focusing on the epigenetic regulation of cancer stem cells (CSCs) mediated by hesperidin and hesperetin. This review summarizes the molecular crosstalk between hesperidin/hesperetin and CSCs mediated via three major epigenetic pathways, including direct regulatory effects, indirect modulatory actions, and mechanistic relationships proposed based on scientific hypotheses. We elaborate their effects on inhibiting the self-renewal, invasion and metastasis of CSCs as well as reversing chemoresistance, and analyze the crosstalk between epigenetic networks and classical signaling pathways of CSCs.

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